Biblio

Author Title Type [ Year(Desc)]
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2013
Lampasona V, Passerini L, Barzaghi F, Lombardoni C, Bazzigaluppi E, Brigatti C, Bacchetta R, Bosi E. Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome. PLoS One. 2013;8(11):e78664.
2015
Hendel A, Bak RO, Clark JT, Kennedy AB, Ryan DE, Roy S, Steinfeld I, Lunstad BD, Kaiser RJ, Wilkens AB, et al. Chemically modified guide RNAs enhance CRISPR-Cas genome editing in human primary cells. Nat Biotechnol. 2015.
Canani RBerni, Castaldo G, Bacchetta R, Martín MG, Goulet O. Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. Nat Rev Gastroenterol Hepatol. 2015.
Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, et al. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015.
2018
Roncarolo MGrazia, Gregori S, Bacchetta R, Battaglia M, Gagliani N. The Biology of T Regulatory Type 1 Cells and Their Therapeutic Application in Immune-Mediated Diseases. Immunity. 2018;49(6):1004-1019.
Roth TL, Puig-Saus C, Yu R, Shifrut E, Carnevale J, P Li J, Hiatt J, Saco J, Krystofinski P, Li H, et al. Reprogramming human T cell function and specificity with non-viral genome targeting. Nature. 2018.
2019
Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, Jagadeesh KA, Alehashemi S, Erdman L, Grimley M, et al. Severe autoinflammation in four patients with C-terminal variants in CDC42 successfully treated with IL-1β inhibition. J Allergy Clin Immunol. 2019.
Passerini L, Barzaghi F, Curto R, Sartirana C, Barera G, Tucci F, Albarello L, Mariani A, AlbertoTestoni P, Bazzigaluppi E, et al. Treatment with Rapamycin Can Restore Regulatory T Cell Function in IPEX Patients. J Allergy Clin Immunol. 2019.
2021
Chen PP, Cepika A-M, Agarwal-Hashmi R, Saini G, Uyeda MJ, Louis DM, Cieniewicz B, Narula M, Hernandez LCAmaya, Harre N, et al. Alloantigen-specific type 1 regulatory T cells suppress through CTLA-4 and PD-1 pathways and persist long-term in patients. Sci Transl Med. 2021;13(617):eabf5264.
2022
Narula M, Lakshmanan U, Borna S, Schulze JJ, Holmes TH, Harre N, Kirkey M, Ramachandran A, Tagi VMaria, Barzaghi F, et al. Epigenetic and Immunological Indicators of IPEX Disease in subjects with FOXP3 gene mutation. J Allergy Clin Immunol. 2022.
2023
Gernez Y, Narula M, Cepika A-M, Camacho JValdes, Hoyte EG, Mouradian K, Glader B, Singh D, Sathi B, Rao L, et al. Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition. Front Immunol. 2023;14:1328005.
Borna S, Meffre E, Bacchetta R. FOXP3 deficiency, from the mechanisms of the disease to curative strategies. Immunol Rev. 2023.
Wyatt RC, Olek S, De Franco E, Samans B, Patel K, Houghton J, Walter S, Schulze J, Bacchetta R, Hattersley AT, et al. FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome. J Clin Immunol. 2023.
Borna S, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, Mavers M, Lakshmanan U, Narula M, Garrett AKang-Hee, et al. Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with mutations. Sci Transl Med. 2023;15(727):eadg6822.
Bacchetta R, Roncarolo MGrazia. IPEX Syndrome from diagnosis to cure, learning along the way. J Allergy Clin Immunol. 2023.